Varaico: Literature-Extracted Genetic Variants

ZNF423

122 papers

RefSeq Summary

The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fi...

Pfam Domains

zf-C2H2aa 146–168UCSCZinc finger, C2H2 type

zf-C2H2aa 202–224UCSCZinc finger, C2H2 type

zf-C2H2aa 230–252UCSCZinc finger, C2H2 type

zf-C2H2aa 488–511UCSCZinc finger, C2H2 type

zf-C2H2aa 640–662UCSCZinc finger, C2H2 type

zf-C2H2aa 700–723UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 423

HGNC Alias Symbols

KIAA0760; hOAZ; Ebfaz; Zfp104; NPHP14; JBTS19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001379286.1

p.L318Q

c.953T>A

Surrounding Variants

1 paper

NM_001379286.1

p.D314D

c.942C>T

1 paper

NM_001379286.1

p.P309S

c.925C>T

1 paper

NM_001379286.1

p.P334R

c.1001C>G

1 paper

NM_001379286.1

p.E287D

c.861G>C

1 paper

NM_001379286.1

p.D274V

c.821A>T

1 paper

NM_001379286.1

p.K264*

c.790A>T

1 paper

NM_001379286.1

p.S374S

c.1122C>T

1 paper

NM_015069.5

p.H250delFs

c.748_749delTG

3 papers

NM_001379286.1

p.S382P

c.1144T>C

1 paper

NM_001379286.1

p.E387K

c.1159G>A

1 paper

NM_001271620.2

p.E319D

c.957G>T

1 paper

NM_001271620.2

p.E319D

c.957G>C